Associated Papers
Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysis.
Iijima H et al.
Molecular Genetics and Metabolism, 2025
Vanishing white matter in multiple mitochondrial dysfunction syndrome-2 due to compound heterozygosity for novel BOLA3 variants.
Finsterer J
Revue Neurologique, 2023
Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3.
Bargagna B et al.
International Journal of Molecular Sciences, 2023
Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.
Camponeschi F et al.
Biomolecules, 2022
A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation.
Lebigot E et al.
Biomedicines, 2021
Biochemical impact of a disease-causing Ile67Asn substitution on BOLA3 protein.
Sen S et al.
Metallomics : Integrated Biometal Science, 2021
Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy.
Nikam RM et al.
American Journal of Medical Genetics. Part A, 2018
Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.
Wachnowsky C et al.
Metallomics : Integrated Biometal Science, 2018
Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions.
Burr SP et al.
Cell Metabolism, 2016
27923773 (PubMed )
Supplement: mmc1.pdf
Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery.
Maio N et al.
Biochimica Et Biophysica Acta, 2015
Mitochondrial iron-sulfur protein biogenesis and human disease.
Stehling O et al.
Biochimie, 2014
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR et al.
Brain : a Journal of Neurology, 2014
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
Haack TB et al.
Journal of Inherited Metabolic Disease, 2013
Iron-Sulfur Protein Assembly in Human Cells.
Saha PP et al.
Reviews of Physiology, Biochemistry and Pharmacology, 0
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